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GNE mutants [cytosol]
Stable Identifier
R-HSA-4088411
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
cytosol
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with glycosylation precursor biosynthesis (Homo sapiens)
Defective GNE causes sialuria, NK and IBM2 (Homo sapiens)
Defective GNE does not hydrolyse UDP-GlcNAc (Homo sapiens)
GNE mutants [cytosol] (Homo sapiens)
Defective GNE does not phosphorylate ManNAc to ManNAc-6-P (Homo sapiens)
GNE mutants [cytosol] (Homo sapiens)
Participants
members
GNE R263L [cytosol]
(Homo sapiens)
GNE R266Q [cytosol]
(Homo sapiens)
GNE R266W [cytosol]
(Homo sapiens)
GNE A631V [cytosol]
(Homo sapiens)
GNE C303V [cytosol]
(Homo sapiens)
GNE M171V [cytosol]
(Homo sapiens)
GNE M712T [cytosol]
(Homo sapiens)
GNE V572L [cytosol]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
myopathy
DOID:423
sialuria
DOID:3659
inclusion body myositis
DOID:3429
Inclusion body myositis (disorder), inclusion body myositis
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